Defective protein translation as a pathogenic mechanism of peripheral neuropathy

Informazioni relative al progetto

CMTaaRS

ID dell’accordo di sovvenzione: 770244

DOI

10.3030/770244

Progetto chiuso

Data della firma CE 31 Gennaio 2018

Data di avvio 1 Giugno 2018

Data di completamento 31 Maggio 2024

Finanziato da

• EXCELLENT SCIENCE - European Research Council (ERC)

Costo totale

€ 2 000 000,00

Contributo UE

€ 2 000 000,00

Coordinato da

STICHTING RADBOUD UNIVERSITEIT
Netherlands

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Pubblicazioni

Peer reviewed articles (15)

Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila

Autori: Michaela Fenckova; Villo Muha; Daniel Mariappa; Marica Catinozzi; Ignacy Czajewski; Laura E. R. Blok; Andrew T. Ferenbach; Erik Storkebaum; Annette Schenck; Daan M. F. van Aalten
Pubblicato in: Plos Genetics, Numero 18(5): e1010159, 2022, ISSN 1553-7390
Editore: Public Library of Science
DOI: 10.1371/journal.pgen.1010159

THRONCAT: Efficient metabolic labeling of newly synthesized proteins using a bioorthogonal threonine analog

Autori: Bob J. Ignacio; Jelmer Dijkstra; Natalia Mora Garcia; Erik F.J. Slot; Margot J. van Weijsten; Erik Storkebaum; Michiel Vermeulen; Kimberly M. Bonger
Pubblicato in: Nature Communications, Numero 14, 3367, 2023, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1101/2022.03.29.486210

Glycolic acid and D-lactate – putative products of DJ-1 – restore neurodegeneration in FUS- and SOD1-ALS

Autori: Pal A, Grossmann D, Glaß H, Zimyanin V, Günther R, Catinozzi M, Boeckers TM, Sterneckert J, Storkebaum E, Petri S, Wegner F, Grill SW, Pan-Montojo F, Hermann A
Pubblicato in: Life Science Alliance, 2024, ISSN 2575-1077
Editore: EMBO-press
DOI: 10.26508/lsa.202302535

Messenger RNA translation defects in neurodegenerative diseases

Autori: Storkebaum E, Rosenblum K, Sonenberg N.
Pubblicato in: New Engl J Med, 2023, Pagina/e 388(11): 1015-30, ISSN 0028-4793
Editore: Massachusetts Medical Society
DOI: 10.1056/nejmra2215795

tRNA dysregulation in neurodevelopmental and neurodegenerative diseases

Autori: Burgess RW, Storkebaum
Pubblicato in: Annu Rev Cell Dev Biol, 2023, Pagina/e 39: 223-252, ISSN 1081-0706
Editore: Annual Reviews, Inc.
DOI: 10.1146/annurev-cellbio-021623-124009

tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase

Autori: Amila Zuko, Moushami Mallik, Robin Thompson, Emily Spaulding, Anne Wienand, Marije Been, Abigail Tadenev, Nick van Bakel, Céline Sijlmans, Leonardo Santos, Julia Bussmann, Marica Catinozzi, Sarada Das, Divita Kulshrestha, Robert Burgess, Zoya Ignatova, Erik Storkebaum
Pubblicato in: Science, Numero Vol 373; Numero 6559, 2021, Pagina/e 1161-1166, ISSN 0036-8075
Editore: American Association for the Advancement of Science
DOI: 10.1126/science.abb3356

Exploring the brain epitranscriptome : perspectives from the NSAS summit.

Autori: Lee S, Koo B, Carré C, Fischer A, He C, Kumar A, Liu K, Meyer KD, Ming G, Peng J, Roignant J, Storkebaum E, Sun S, De Pietri Tonelli D, Wang Y, Weng Y, Pulvirenti L, Shi Y, Yoon K, Song H.
Pubblicato in: Front Neurosci, Numero 17, 1291446, 2023, ISSN 1662-4548
Editore: Frontiers Research Foundation
DOI: 10.3389/fnins.2023.1291446

The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy

Autori: Spaulding E, Hines T, Bais P, Tadenev A, Schneider R, Jewett D, Pattavina B, Pratt S, Morelli K, Stum M, Hill D, Gobet C, Pipis M, Reilly M, Jennings M, Horvath R, Bai Y, Shy M, Alvarez-Castelao, Schuman E, Bogdanik L, Storkebaum E
Pubblicato in: Science, Numero Vol 373, Numero 6559, 2021, Pagina/e 1156-1161, ISSN 0036-8075
Editore: American Association for the Advancement of Science
DOI: 10.1126/science.abb3414

Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Autori: Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. V
Pubblicato in: Nature Communications, Numero 14, 342, 2023, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-022-35724-1

Xrp1 genetically interacts with the ALS-associated FUS orthologue caz and mediates its toxicity

Autori: Moushami Mallik, Marica Catinozzi, Clemens B. Hug, Li Zhang, Marina Wagner, Julia Bussmann, Jonas Bittern, Sina Mersmann, Christian Klämbt, Hannes C.A. Drexler, Martijn A. Huynen, Juan M. Vaquerizas, Erik Storkebaum
Pubblicato in: The Journal of Cell Biology, Numero 217/11, 2018, Pagina/e 3947-3964, ISSN 0021-9525
Editore: Rockefeller University Press
DOI: 10.1083/jcb.201802151

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation

Autori: Marcel Naumann, Arun Pal, Anand Goswami, Xenia Lojewski, Julia Japtok, Anne Vehlow, Maximilian Naujock, René Günther, Mengmeng Jin, Nancy Stanslowsky, Peter Reinhardt, Jared Sterneckert, Marie Frickenhaus, Francisco Pan-Montojo, Erik Storkebaum, Ina Poser, Axel Freischmidt, Jochen H. Weishaupt, Karlheinz Holzmann, Dirk Troost, Albert C. Ludolph, Tobias M. Boeckers, Stefan Liebau, Susanne Petri,
Pubblicato in: Nature Communications, Numero 9/1, 2018, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-017-02299-1

FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis

Autori: Gina Picchiarelli, Maria Demestre, Amila Zuko, Marije Been, Julia Higelin, Stéphane Dieterlé, Marc-Antoine Goy, Moushami Mallik, Chantal Sellier, Jelena Scekic-Zahirovic, Li Zhang, Angela Rosenbohm, Céline Sijlmans, Amr Aly, Sina Mersmann, Inmaculada Sanjuan-Ruiz, Annemarie Hübers, Nadia Messaddeq, Marina Wagner, Nick van Bakel, Anne-Laurence Boutillier, Albert Ludolph, Clotilde Lagier-Tourenn
Pubblicato in: Nature Neuroscience, Numero 22/11, 2019, Pagina/e 1793-1805, ISSN 1097-6256
Editore: Nature Publishing Group
DOI: 10.1038/s41593-019-0498-9

C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A

Autori: Thomas G. Moens, Teresa Niccoli, Katherine M. Wilson, Magda L. Atilano, Nicol Birsa, Lauren M. Gittings, Benedikt V. Holbling, Miranda C. Dyson, Annora Thoeng, Jacob Neeves, Idoia Glaria, Lu Yu, Julia Bussmann, Erik Storkebaum, Mercedes Pardo, Jyoti S. Choudhary, Pietro Fratta, Linda Partridge, Adrian M. Isaacs
Pubblicato in: Acta Neuropathologica, Numero 137/3, 2019, Pagina/e 487-500, ISSN 0001-6322
Editore: Springer Verlag
DOI: 10.1007/s00401-018-1946-4

The Drosophila FUS ortholog cabeza promotes adult founder myoblast selection by Xrp1-dependent regulation of FGF signaling

Autori: Marica Catinozzi, Moushami Mallik, Marie Frickenhaus, Marije Been, Céline Sijlmans, Divita Kulshrestha, Ioannis Alexopoulos, Manuela Weitkunat, Frank Schnorrer, Erik Storkebaum
Pubblicato in: PLOS Genetics, Numero 16/4, 2020, Pagina/e e1008731, ISSN 1553-7404
Editore: PLOS
DOI: 10.1371/journal.pgen.1008731

Immunoprecipitation assay to quantify the amount of tRNAs associated with their interacting proteins in tissue and cell culture

Autori: Sarada Das, Amila Zuko, Robin Thompson, Erik Storkebaum, Zoya Ignatova
Pubblicato in: Bio-protocol, Numero 12(04): e4335, 2022, ISSN 2331-8325
Editore: American Association for the Advancement of Science
DOI: 10.21769/bioprotoc.4335

Diritti di proprietà intellettuale

Patent (1)

TRNA OVEREXPRESSION AS A THERAPEUTIC APPROACH FOR CHARCOT-MARIE-TOOTH NEUROPATHY ASSOCIATED WITH MUTATIONS IN TRNA SYNTHETASES

Numero candidatura/pubblicazione: 21 702747
Data: 2021-01-27
Candidato/i: STICHTING RADBOUD UNIVERSITEIT